Canonical Allele Identifier: CA931348302

Gene: PLCE1 NOC3L

Linked Data

• dbSNP Id: rs2054099879
• gnomAD v3: 10-94328090-T-TGCTGAGGAGAAGCAAAATGGCACAGGGCTAG
• gnomAD v4: 10-94328090-T-TGCTGAGGAGAAGCAAAATGGCACAGGGCTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94328091_94328121dup , CM000672.2:g.94328091_94328121dup	GRCh38
NC_000010.10:g.96087848_96087878dup , CM000672.1:g.96087848_96087878dup	GRCh37
NC_000010.9:g.96077838_96077868dup	NCBI36
NG_015799.1:g.339103_339133dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.8996_9026dup (PLCE1)	ENSP00000360426.1:n.8996_9026dup
ENST00000688810.1:c.6085_6115dup (PLCE1)	ENSP00000509140.1:n.6085_6115dup
ENST00000690340.1:n.4701_4731dup (PLCE1)
ENST00000692396.1:c.*148_*178dup (PLCE1)	ENSP00000508605.1:n.*148_*178dup
ENST00000371380.8:c.*148_*178dup (PLCE1) MANE Select	ENSP00000360431.2:n.*148_*178dup
ENST00000371385.8:c.*148_*178dup (PLCE1)	ENSP00000360438.4:n.*148_*178dup
ENST00000675218.1:c.6133_6163dup (PLCE1)	ENSP00000501910.1:n.6133_6163dup
ENST00000675487.1:c.*2990_*3020dup (PLCE1)	ENSP00000502340.1:n.*2990_*3020dup
ENST00000260766.7:c.*148_*178dup (PLCE1)	ENSP00000260766.3:n.*148_*178dup
ENST00000371380.7:c.*148_*178dup (PLCE1)	ENSP00000360431.2:n.*148_*178dup
ENST00000371385.7:c.*148_*178dup (PLCE1)	ENSP00000360438.3:n.*148_*178dup
NM_001165979.2:c.*148_*178dup (PLCE1)	NP_001159451.1:n.*148_*178dup
NM_001288989.1:c.*148_*178dup (PLCE1)	NP_001275918.1:n.*148_*178dup
NM_016341.3:c.*148_*178dup (PLCE1)	NP_057425.3:n.*148_*178dup
XM_006717885.2:c.*148_*178dup (PLCE1)	XP_006717948.1:n.*148_*178dup
XM_006717888.2:c.*148_*178dup (PLCE1)	XP_006717951.1:n.*148_*178dup
XM_006717889.2:c.*148_*178dup (PLCE1)	XP_006717952.1:n.*148_*178dup
XM_006717890.1:c.*148_*178dup (PLCE1)	XP_006717953.1:n.*148_*178dup
XM_011539849.1:c.*148_*178dup (PLCE1)	XP_011538151.1:n.*148_*178dup
XM_011539850.1:c.*148_*178dup (PLCE1)	XP_011538152.1:n.*148_*178dup
XR_945799.1:n.3310+5269_3310+5299dup (NOC3L)
XM_006717885.4:c.*148_*178dup (PLCE1)	XP_006717948.1:n.*148_*178dup
XM_006717888.4:c.*148_*178dup (PLCE1)	XP_006717951.1:n.*148_*178dup
XM_006717889.4:c.*148_*178dup (PLCE1)	XP_006717952.1:n.*148_*178dup
XM_006717890.3:c.*148_*178dup (PLCE1)	XP_006717953.1:n.*148_*178dup
XM_011539849.3:c.*148_*178dup (PLCE1)	XP_011538151.1:n.*148_*178dup
XM_011539850.3:c.*148_*178dup (PLCE1)	XP_011538152.1:n.*148_*178dup
XM_017016310.2:c.*148_*178dup (PLCE1)	XP_016871799.1:n.*148_*178dup
XM_017016312.2:c.*148_*178dup (PLCE1)	XP_016871801.1:n.*148_*178dup
XR_002957007.1:n.3311+5269_3311+5299dup (NOC3L)
NM_001288989.2:c.*148_*178dup (PLCE1)	NP_001275918.1:n.*148_*178dup
NM_016341.4:c.*148_*178dup (PLCE1) MANE Select	NP_057425.3:n.*148_*178dup